Zobrazeno 1 - 10
of 206
pro vyhledávání: '"biallelic mutation"'
Autor:
Ming-Ming Chen, Yue Zhao, Kun Yu, Xue-Ling Xu, Xiao-Sheng Zhang, Jin-Long Zhang, Su-Jun Wu, Zhi-Mei Liu, Yi-Ming Yuan, Xiao-Fei Guo, Shi-Yu Qi, Guang Yi, Shu-Qi Wang, Huang-Xiang Li, Ao-Wu Wu, Guo-Shi Liu, Shou-Long Deng, Hong-Bing Han, Feng-Hua Lv, Di Lian, Zheng-Xing Lian
Publikováno v:
eLife, Vol 12 (2024)
Mutations in the well-known Myostatin (MSTN) produce a ‘double-muscle’ phenotype, which makes it commercially invaluable for improving livestock meat production and providing high-quality protein for humans. However, mutations at different loci o
Externí odkaz:
https://doaj.org/article/6d6589059d74476c98e3bc41d91e2f19
Akademický článek
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Autor:
Shuang Liu, Xiuyuan Wang, Qianqian Li, Wentao Peng, Zunmian Zhang, Pengfei Chu, Shangjing Guo, Yinglun Fan, Shanhua Lyu
Publikováno v:
Frontiers in Plant Science, Vol 13 (2022)
Agrobacterium rhizogenes–mediated (ARM) transformation is an efficient and powerful tool to generate transgenic roots to study root-related biology. For loss-of-function studies, transgenic-root-induced indel mutations by CRISPR/Cas9 only with homo
Externí odkaz:
https://doaj.org/article/3b6bbb305c104df38854974b00e6655c
Publikováno v:
Терапевтический архив, Vol 91, Iss 2, Pp 97-100 (2019)
MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles
Externí odkaz:
https://doaj.org/article/bf83a884fa0044c380d4014c9e1d20fc
Akademický článek
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Autor:
Yanwei Sha, Wensheng Liu, Xianjing Huang, Yang Li, Zhiyong Ji, Libin Mei, Shaobin Lin, Shuangbo Kong, Jinhua Lu, Lingyuan Kong, Xingshen Zhu, Zhongxian Lu, Lu Ding
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Asthenozoospermia (AZS), also known as asthenospermia, is characterized by reduced motility of ejaculated spermatozoa and is detected in more than 40% of infertile patients. Because the proportion of progressive spermatozoa in sev
Externí odkaz:
https://doaj.org/article/a164ac7377024dd392954c218e481de9
Akademický článek
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Autor:
Srinivas Sankaranarayanan, Mukul Vij
Publikováno v:
Pediatric and Developmental Pathology. 25:207-212
Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 ( USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f81678486057b825ce8fdb0b4e0a3c2
https://doi.org/10.1177/10935266211051175
https://doi.org/10.1177/10935266211051175
Publikováno v:
Biology Open, Vol 4, Iss 3, Pp 364-369 (2015)
Transcription activator-like effector nucleases (TALENs) are artificial nucleases harboring a customizable DNA-binding domain and a FokI nuclease domain. The high specificity of the DNA-binding domain and the ease of design have enabled researchers t
Externí odkaz:
https://doaj.org/article/e6c65550614d4ef598d87f404268d3db
Publikováno v:
Leukemia & Lymphoma. 62:2416-2427
We have reported the genetic mutation profile in previously untreated acute myeloid leukemia (AML) patients using a targeted NGS screening method. In this study, we evaluated the characteristics and prognostic significance of gene mutations in refrac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a679322936c2f7aeb17b6ad6f1671c
https://doi.org/10.1080/10428194.2021.1919661
https://doi.org/10.1080/10428194.2021.1919661